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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **12476 - 12500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080237	autosomal dominant intellectual developmental disorder 46 Aliases: autosomal dominant mental retardation 46	KCNQ5	56479	Homo sapiens (human)	Alliance of Genome Resources
DOID:13025	retinopathy of prematurity Aliases: Retrolental fibroplasia premature retinopathy	ANGPT2 DLL4 EPO EPOR FLT1 HGF HLA-B HLA-DRB1 ICAM1 IGFBP3 IHH IL10 KDR NOS1 NOS2 NOS3 NOTCH1 SERPINE1 SERPINF1 SOD1 VEGFA	2056 2057 2321 285 3082 3106 3123 3383 3486 3549 3586 3791 4842 4843 4846 4851 5054 5176 54567 6647 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:9828	neonatal abstinence syndrome Aliases: Drug withdrawal syndrome in newborn	COMT CYP2B6 OPRK1 OPRM1	1312 1555 4986 4988	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	ST3GAL3	6487	Homo sapiens (human)	Alliance of Genome Resources
DOID:820	myocarditis Aliases: Myocardial inflammation	ACE ADRB2 CCL2 CTLA4 CX3CL1 CXCR3 CYP11B1 HLA-DQB1 ICAM1 ICOS IL10 IL17A IL22 ITGB2 LCN2 MIF PPA1 PPA2 PTGER4 SPP1 STAT6 TNFRSF11A TNFRSF11B TNFSF11	1493 154 1584 1636 27068 2833 29851 3119 3383 3586 3605 3689 3934 4282 4982 50616 5464 5734 6347 6376 6696 6778 8600 8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:8970	subacute sclerosing panencephalitis Aliases: Immunosuppressive measles encephalitis Van Bogaert's sclerosing leukoencephalitis subacute sclerosing leukoencephalopathy	ACE IFNL1	1636 282618	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070517	retinal macular dystrophy 2 Aliases: MCDR2	PROM1	8842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U Aliases: LGMD2U MDDGC7 autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency muscular dystrophy limb-girdle type 2U muscular dystrophy-dystroglycanopathy (limb-girdle) type C7	CRPPA	729920	Homo sapiens (human)	Alliance of Genome Resources
DOID:801	hemarthrosis Aliases: Haemarthrosis of shoulder joint Haemarthrosis of the ankle and foot Haemarthrosis of the pelvic region and thigh Hemarthrosis involving ankle and foot Hemarthrosis involving forearm Hemarthrosis involving hand Hemarthrosis involving lower leg Hemarthrosis involving pelvic region and thigh Hemarthrosis involving shoulder region Hemarthrosis involving upper arm Hemarthrosis of ankle and/or foot Hemarthrosis of forearm Hemarthrosis of hand Hemarthrosis of lower leg Hemarthrosis of shoulder Hemarthrosis of shoulder region Hemarthrosis of the ankle and foot Hemarthrosis of the ankle and/or foot Hemarthrosis of the forearm Hemarthrosis of the hand Hemarthrosis of the lower leg Hemarthrosis of the pelvic region and thigh Hemarthrosis of the shoulder region Hemarthrosis of the upper arm Hemarthrosis of upper arm	F8	2157	Homo sapiens (human)	Alliance of Genome Resources
DOID:118	pericardial effusion	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:2436	glomangioma Aliases: Glomuvenous Malformation	GLMN	11146	Homo sapiens (human)	Alliance of Genome Resources
DOID:9719	neovascular inflammatory vitreoretinopathy Aliases: ADNIV Retinitis proliferans autosomal dominant neovascular inflammatory vitreoretinopathy proliferative vitreoretinopathy	AGER APOA4 BDNF CAT EDN1 HGF ICAM1 IGFBP6 IL6 KNG1 LRP5 LTA SERPINF1	177 1906 3082 337 3383 3489 3569 3827 4041 4049 5176 627 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:13544	low tension glaucoma Aliases: Normal tension glaucoma	ADRB1 APOE BDNF EDN1 HSPD1 MYOC OPTN SLC1A1 SLC1A3 SOD1 TLR4 TNF TP53	10133 153 1906 3329 348 4653 627 6505 6507 6647 7099 7124 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:3829	pituitary adenoma Aliases: adenoma of the Pituitary gland	AVPR1B CDKN1B SDHA	1027 553 6389	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080419	developmental and epileptic encephalopathy 50 Aliases: CDG syndrome type Iz CDG-Iz Carbohydrate deficient glycoprotein syndrome type Iz Congenital disorder of glycosylation type 1z DEE50 early infantile epileptic encephalopathy 50	CAD	790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060599	Nance-Horan syndrome	NHS	4810	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111840	Van Esch-O'Driscoll syndrome Aliases: MRXSVEOD VEODS X-linked intellectual disability, Van Esch type X-linked syndromic mental retardation Van Esch-O'Driscoll type	POLA1	5422	Homo sapiens (human)	Alliance of Genome Resources
DOID:1686	glaucoma	ACE2 AGO2 APOA4 ATF2 BAD BAX BDNF CCR5 CDKN1B CFH EEF2 EPO EPOR FAS FOXC1 HDAC1 HEPH HLA-DQB1 HLA-DRB1 JUN LGR4 LINGO1 MAS1 MMP9 MUC5AC NEFH NGF NGFR NTRK1 NTRK2 OPTN PITX2 PTGS1 PTPN11 RFTN1 SERPINE1 SH3PXD2B SNCG SQSTM1 TNF VEGFA WDR36	10133 1027 1234 134430 1386 1938 2056 2057 2296 23180 27161 285590 3065 3075 3119 3123 337 355 3725 4142 4318 4586 4744 4803 4804 4914 4915 5054 5308 55366 572 5742 5781 581 59272 627 6623 7124 7422 84894 8878 9843	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	FGFR3 HRAS NRAS PIK3CA	2261 3265 4893 5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111530	linear nevus sebaceous syndrome Aliases: JNP Jadassohn nevus phakomatosis SFM syndrome Schimmelpenning Feuerstein Mims syndrome Schimmelpenning syndrome Solomon syndrome nevus sebaceus of Jadassohn nevus sebaceus syndrome organoid nevus phakomatosis organoid nevus syndrome	HRAS KRAS NRAS	3265 3845 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060404	chromosome 17q12 deletion syndrome Aliases: 17q12 microdeletion syndrome	AATF ACACA ACACB DUSP14	11072 26574 31 32	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	LARGE1	9215	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060387	chondrodysplasia Blomstrand type Aliases: Blomstrand lethal chondrodysplasia	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070269	congenital disorder of glycosylation type IIq Aliases: CDG IIq CDG2Q CDGIIdq COG2-CDG COG2-related congenital disorder of glycosylation	COG2	22796	Homo sapiens (human)	Alliance of Genome Resources
DOID:12689	acoustic neuroma Aliases: Vestibular Neurilemmoma Vestibular schwannoma	ARTN BDNF CYP2E1 FGFR1 GDNF IGFBP3 VEGFA	1571 2260 2668 3486 627 7422 9048	Homo sapiens (human)	Alliance of Genome Resources

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